ClinVar

NM_002168.4(IDH2):c.418C>T (p.Arg140Trp)

Gene:

IDH2:isocitrate dehydrogenase (NADP(+)) 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.1

Genomic location:

• Chr15: 90088703 (on Assembly GRCh38)
• Chr15: 90631935 (on Assembly GRCh37)

Preferred name:

NM_002168.4(IDH2):c.418C>T (p.Arg140Trp)

HGVS:

• NC_000015.10:g.90088703G>A
• NG_023302.1:g.18774C>T
• NM_001289910.1:c.262C>T
• NM_001290114.2:c.28C>T
• NM_002168.4:c.418C>TMANE SELECT
• NP_001276839.1:p.Arg88Trp
• NP_001277043.1:p.Arg10Trp
• NP_002159.2:p.Arg140Trp
• LRG_611t1:c.262C>T
• LRG_611:g.18774C>T
• LRG_611p1:p.Arg88Trp
• NC_000015.9:g.90631935G>A
• NM_002168.2:c.418C>T

This HGVS expression did not pass validation

Protein change:

R10W

Links:

dbSNP: rs267606870

NCBI 1000 Genomes Browser:

rs267606870

Molecular consequence:

• NM_001289910.1:c.262C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001290114.2:c.28C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_002168.4:c.418C>T - missense variant - [Sequence Ontology: SO:0001583]